Anatomical and functional abnormalities on MRI in kabuki syndrome.

Jennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, Natacha Lehman, Ana Saitovitch, Vincent Gatinois, Guilaine Boursier, Elodie Sanchez, Elza Rechtman, Ludovic Fillon, Stanislas Lyonnet, Kim-Hanh Le Quang Sang, Genevieve Baujat, Marlene Rio, Odile Boute, Laurence Faivre, Elise Schaefer, Damien Sanlaville, Monica Zilbovicius, David Grévent, David Geneviève, Nathalie Boddaert
NeuroImage: Clinical. 2019-01-01; 21: 101610
DOI: 10.1016/j.nicl.2018.11.020

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Kabuki syndrome (KS) is a rare congenital disorder (1/32000 births) characterized
by distinctive facial features, intellectual disability, short stature, and
dermatoglyphic and skeletal abnormalities. In the last decade, mutations in KMT2D
and KDM6A were identified as a major cause of kabuki syndrome. Although genetic
abnormalities have been highlighted in KS, brain abnormalities have been little
explored. Here, we have investigated brain abnormalities in 6 patients with KS (4
males; Mage = 10.96 years, SD = 2.97 years) with KMT2D mutation in comparison
with 26 healthy controls (17 males; Mage = 10.31 years, SD = 2.96 years). We have
used MRI to explore anatomical and functional brain abnormalities in patients
with KS. Anatomical abnormalities in grey matter volume were assessed by cortical
and subcortical analyses. Functional abnormalities were assessed by comparing
rest cerebral blood flow measured with arterial spin labeling-MRI. When compared
to healthy controls, KS patients had anatomical alterations characterized by grey
matter decrease localized in the bilateral precentral gyrus and middle frontal
gyrus. In addition, KS patients also presented functional alterations
characterized by cerebral blood flow decrease in the left precentral gyrus and
middle frontal gyrus. Moreover, subcortical analyses revealed significantly
decreased grey matter volume in the bilateral hippocampus and dentate gyrus in
patients with KS. Our results strongly indicate anatomical and functional brain
abnormalities in KS. They suggest a possible neural basis of the cognitive
symptoms observed in KS, such as fine motor impairment, and indicate the need to
further explore the consequences of such brain abnormalities in this disorder.
Finally, our results encourage further imaging-genetics studies investigating the
link between genetics, anatomical and functional brain alterations in KS.

Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

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